A59V (p.Ala59Val) variant of FANCA (Fanconi anemia group A protein)
A59V (p.Ala59Val) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- gnomAD rs1165398420
- Missense
- Variant Prioritization Score for Impact Estimate 0.0861
- REVEL 0.02
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available